Variant report

Variant	rs28581643
Chromosome Location	chr8:19377481-19377482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19371116..19373771-chr8:19377059..19378982,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088454	0.86[ASN][1000 genomes]
rs10089231	0.86[ASN][1000 genomes]
rs10095053	0.85[ASN][1000 genomes]
rs10099716	0.99[ASN][1000 genomes]
rs10101192	0.92[ASN][1000 genomes]
rs10105363	0.87[ASN][1000 genomes]
rs10109274	0.87[ASN][1000 genomes]
rs10110641	1.00[EUR][1000 genomes]
rs10111704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112270	0.99[ASN][1000 genomes]
rs10503651	0.86[ASN][1000 genomes]
rs11996150	0.90[ASN][1000 genomes]
rs12334362	0.86[ASN][1000 genomes]
rs13282951	0.86[ASN][1000 genomes]
rs17128556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128604	0.87[ASN][1000 genomes]
rs17128609	0.87[ASN][1000 genomes]
rs28460428	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28488909	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28490401	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28614008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640069	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4472532	0.87[ASN][1000 genomes]
rs4481614	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55676623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56672726	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57087900	0.87[ASN][1000 genomes]
rs59703425	0.85[ASN][1000 genomes]
rs59810980	1.00[EUR][1000 genomes]
rs68068544	0.87[ASN][1000 genomes]
rs7002643	0.90[ASN][1000 genomes]
rs73585587	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7814548	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19367000-19385000	Weak transcription	Ovary	ovary
2	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
3	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:19373000-19380600	Weak transcription	Lung	lung
7	chr8:19373200-19377600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:19373400-19381600	Weak transcription	Spleen	Spleen
9	chr8:19373400-19382000	Weak transcription	Pancreas	Pancrea
10	chr8:19373600-19378400	Weak transcription	Placenta	Placenta
11	chr8:19373600-19382000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:19373600-19382200	Weak transcription	Gastric	stomach
13	chr8:19373800-19380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:19374000-19379800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19374000-19382200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:19374400-19380200	Strong transcription	A549	lung
17	chr8:19374400-19385400	Weak transcription	Thymus	Thymus
18	chr8:19374600-19382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:19375600-19390000	Weak transcription	Right Atrium	heart
20	chr8:19376200-19388000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:19376400-19379000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:19376400-19380600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:19376400-19388400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:19376600-19378200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:19376800-19377600	Enhancers	Left Ventricle	heart
26	chr8:19377000-19380600	Strong transcription	Primary B cells from cord blood	blood
27	chr8:19377000-19388400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:19377200-19379200	Weak transcription	Hela-S3	cervix
29	chr8:19377200-19388400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:19377400-19377600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:19377400-19377600	Enhancers	Esophagus	oesophagus
32	chr8:19377400-19377600	Enhancers	Right Ventricle	heart

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